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The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis

Authors
 Seo-Jin Park  ;  Choon Sik Yoon  ;  Hui-Wan Park  ;  Jong Rak Choi  ;  Jong Shin Chung  ;  Kyung-A Lee 
Citation
 JOURNAL OF KOREAN MEDICAL SCIENCE, Vol.24(4) : 737-740, 2009 
Journal Title
JOURNAL OF KOREAN MEDICAL SCIENCE
ISSN
 1011-8934 
Issue Date
2009
MeSH
Adult ; Amino Acid Substitution ; Camurati-Engelmann Syndrome/diagnosis* ; Camurati-Engelmann Syndrome/diagnostic imaging ; DNA Mutational Analysis ; Diaphyses/diagnostic imaging ; Heterozygote ; Humans ; Korea ; Male ; Muscle Weakness/diagnostic imaging ; Pedigree ; Radiography ; Transforming Growth Factor beta1/genetics*
Keywords
Camurati-Engelmann Syndrome ; Mutation Analysis ; Skeletal Dysplasia ; Transforming Growth Factor β1 Gene
Abstract
Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-beta1 (TGFB1) gene. We report the first Korean family with an affected mother and son who were diagnosed with CED. The proband is a 19-yr-old male with a history of abnormal gait since the age of 2. He also suffered from proximal muscle weakness, pain in the extremities, and easy fatigability. Skeletal radiographs of the long bones revealed cortical, periosteal, and endosteal thickenings, predominantly affecting the diaphyses of the upper and lower extremities. No other bony abnormalities were noted in the skull and spine and no remarkable findings were seen on laboratory tests. The patient's mother had a long-standing history of mild limb pain. Under the impression of CED on radiographic studies, we performed mutation analysis. A heterozygous G to A transition at cDNA position +653 in exon 4 of the TGFB1 gene (R218H) was detected in the patient and his mother
Files in This Item:
T200902298.pdf Download
DOI
10.3346/jkms.2009.24.4.737
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Orthopedic Surgery (정형외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
Yonsei Authors
Park, Hui Wan(박희완)
Yoon, Choon Sik(윤춘식) ORCID logo https://orcid.org/0000-0003-2010-6710
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/104126
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